Author

Lidia López

Instituto de Salud Carlos IIIORCID 0000-0002-4109-3034Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ariadna Bada-NavarroiD· 1 shared Beatriz BaladróniD· 1 shared Beatriz Martínez–DelgadoiD· 1 shared Bekim SadikovićiD· 1 shared Diana Sánchez-PonceiD· 1 shared Dmitrijs RotsiD· 1 shared Esther Hernández‐SanMigueliD· 1 shared Estrella López MartíniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ariadna Bada-NavarroORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 10, 2024

EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROME

Beatriz Martínez–Delgado, Estrella López Martín, Jennifer Kerkhof…·María J. Barrero

The paper identifies a de novo EHMT2 mutation causing a Kleefstra-like syndrome by reducing enzyme activity and altering epigenetic profiles.

3 citations

humanDNA methylation

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